rs7943570

Positions:

• chr11-48064416-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002843.4(PTPRJ):​c.97-45642C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.204 in 152,030 control chromosomes in the GnomAD database, including 6,111 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.20 (6111 hom., cov: 31)
• Consequence: PTPRJ NM_002843.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0320

Genes affected

PTPRJ (HGNC:9673): (protein tyrosine phosphatase receptor type J) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PTPRJ (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.515 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PTPRJ	NM_002843.4	c.97-45642C>T		intron_variant		ENST00000418331.7	NP_002834.3
PTPRJ	NM_001098503.2	c.97-45642C>T		intron_variant			NP_001091973.1
PTPRJ	XM_017018085.2	c.49-45642C>T		intron_variant			XP_016873574.1
PTPRJ	XM_047427374.1	c.439-45642C>T		intron_variant			XP_047283330.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PTPRJ	ENST00000418331.7	c.97-45642C>T		intron_variant		1	NM_002843.4	ENSP00000400010.2

Frequencies

GnomAD3 genomes AF: 0.203 AC: 30902 AN: 151912 Hom.: 6092 Cov.: 31

Gnomad AFR AF: 0.520

Gnomad AMI AF: 0.0592

Gnomad AMR AF: 0.108

Gnomad ASJ AF: 0.0976

Gnomad EAS AF: 0.118

Gnomad SAS AF: 0.0600

Gnomad FIN AF: 0.0395

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.0834

Gnomad OTH AF: 0.165

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.204 AC: 30960 AN: 152030 Hom.: 6111 Cov.: 31 AF XY: 0.196 AC XY: 14564 AN XY: 74324

Gnomad4 AFR AF: 0.520

Gnomad4 AMR AF: 0.108

Gnomad4 ASJ AF: 0.0976

Gnomad4 EAS AF: 0.117

Gnomad4 SAS AF: 0.0598

Gnomad4 FIN AF: 0.0395

Gnomad4 NFE AF: 0.0833

Gnomad4 OTH AF: 0.163

Alfa AF: 0.105 Hom.: 1282

Bravo AF: 0.224

Asia WGS AF: 0.106 AC: 368 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.0
DANN	Benign	0.49

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7943570; hg19: chr11-48085968;